Scientists from Vanderbilt University have identified a previously unknown genetic disease that increases the risk of developing an infection caused by microbes normally found in humans that are harmless to humans without immune system disorders. The research was published in the journal Science Immunology.
Primary immunodeficiencies are genetic defects that increase susceptibility to infectious diseases and, in some cases, cancer. To date, 485 types of primary immunodeficiency have been described. Their prevalence is now estimated to be one in every 1000-5000 births.
The study’s authors were treating a child suffering from severe and recurrent fungal, viral, mycobacterial, and other infections. Scientists have identified a mutation in the protein gene IRF4, which plays a key role in the development and functioning of various immune cells.
Mutations in this protein are also associated with Whipple disease, a rare bacterial infection in the gut that causes diarrhea, weight loss, and abdominal and abdominal discomfort. joint pain.
The scientists identified seven patients from six unrelated families on four continents with severe combined immunodeficiency who had recurrent and severe infections, including fungal pneumonia. Pneumocystis jirovecii. Each patient had the same mutation in the IRF4 gene. Mutation de novothat is, children did not inherit it from their parents.
The scientists “tested” this mutation on genetically modified mice: the animals also had severe immunodeficiency.
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